A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20739



Internal ID15831384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742923..196745691hg38UCSC Ensembl
Outerchr1:196742493..196746128hg38UCSC Ensembl
Innerchr1:196712053..196714821hg19UCSC Ensembl
Outerchr1:196711623..196715258hg19UCSC Ensembl
Innerchr1:194978676..194981444hg18UCSC Ensembl
Outerchr1:194978246..194981881hg18UCSC Ensembl
Innerchr1:193443710..193446478hg17UCSC Ensembl
Outerchr1:193443280..193446915hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383636
hg193636
hg183636
hg173636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA12740
Known GenesCFH
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv20739
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer